Analysis of protein-coding genetic variation in 60,706 humans
Broad Institute · The University of Sydney · +44 more institutions
Abstract
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various…
Citation impact
- FWCI
- 1579.94
- Percentile
- 100%
- References
- 42
Authors
79- MLMonkol LekCorresponding
Broad Institute, The University of Sydney, Children's Hospital at Westmead, UNSW Sydney, Massachusetts General Hospital
- KJKonrad J. Karczewski
Broad Institute, Massachusetts General Hospital
- EVEric Vallabh Minikel
Broad Institute, Harvard University, Massachusetts General Hospital
- KEKaitlin E. Samocha
Broad Institute, Harvard University, Massachusetts General Hospital
- EBEric Banks
Broad Institute
Topics & keywords
- Variation (astronomy)
- Genetic variation
- Coding (social sciences)
- Evolutionary biology
- Computational biology
- Biology
- Genetics
- Statistics